Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000008549 | SCV000194369 | pathogenic | Lissencephaly due to LIS1 mutation | 2014-03-31 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000008549 | SCV001429446 | pathogenic | Lissencephaly due to LIS1 mutation | 2023-12-06 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1, PM2_SUP, PS4_MOD. This variant was detected in a mosaic state (allele fraction in blood 0.12) |
Institute of Human Genetics, |
RCV001255338 | SCV001431668 | likely pathogenic | Intellectual disability | 2020-08-03 | criteria provided, single submitter | clinical testing | The variant c.22C>T, p.(Arg8*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was mosaic (12-13% allele frequency).The variant likely explains the NDD in this individual. |
Invitae | RCV001851741 | SCV002243755 | pathogenic | not provided | 2021-12-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 8081). This premature translational stop signal has been observed in individual(s) with lissencephaly (PMID: 14581661, 29671837). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg8*) in the PAFAH1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAFAH1B1 are known to be pathogenic (PMID: 1671808, 11115846, 14581661). |
OMIM | RCV000008548 | SCV000028756 | pathogenic | Subcortical band heterotopia | 2003-10-28 | no assertion criteria provided | literature only | |
OMIM | RCV000008549 | SCV000028757 | pathogenic | Lissencephaly due to LIS1 mutation | 2003-10-28 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001291182 | SCV001479605 | likely pathogenic | Lissencephaly | no assertion criteria provided | research |